Canonical Allele Identifier: CA2245712963

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224094_7224096delinsTAG , CM000679.2:g.7224094_7224096delinsTAG	GRCh38
NC_000017.10:g.7127413_7127415delinsTAG , CM000679.1:g.7127413_7127415delinsTAG	GRCh37
NC_000017.9:g.7068137_7068139delinsTAG	NCBI36
NG_007975.1:g.9261_9263delinsTAG
NG_008391.2:g.955_957delinsCTA
NG_033038.1:g.15449_15451delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1434+25_1434+27delinsTAG MANE Select	ENSP00000349297.5:n.1434+25_1434+27delinsTAG
ENST00000322910.9:c.*1389+25_*1389+27delinsTAG	ENSP00000325395.5:n.*1389+25_*1389+27delinsTAG
ENST00000350303.9:c.1368+25_1368+27delinsTAG	ENSP00000344152.5:n.1368+25_1368+27delinsTAG
ENST00000356839.9:c.1434+25_1434+27delinsTAG	ENSP00000349297.5:n.1434+25_1434+27delinsTAG
ENST00000542255.6:c.292+25_292+27delinsTAG
ENST00000543245.6:c.1503+25_1503+27delinsTAG	ENSP00000438689.2:n.1503+25_1503+27delinsTAG
ENST00000578711.1:n.590_592delinsTAG
ENST00000579425.5:n.550+25_550+27delinsTAG
ENST00000579546.1:c.271+25_271+27delinsTAG
ENST00000579894.5:n.170_172delinsTAG
ENST00000583074.5:n.153+25_153+27delinsTAG
ENST00000583850.5:n.209+25_209+27delinsTAG
ENST00000583858.5:c.463+25_463+27delinsTAG
ENST00000585203.6:n.625+25_625+27delinsTAG
NM_000018.3:c.1434+25_1434+27delinsTAG	NP_000009.1:n.1434+25_1434+27delinsTAG
NM_001033859.2:c.1368+25_1368+27delinsTAG	NP_001029031.1:n.1368+25_1368+27delinsTAG
NM_001270447.1:c.1503+25_1503+27delinsTAG	NP_001257376.1:n.1503+25_1503+27delinsTAG
NM_001270448.1:c.1206+25_1206+27delinsTAG	NP_001257377.1:n.1206+25_1206+27delinsTAG
XM_006721516.2:c.1434+25_1434+27delinsTAG	XP_006721579.2:n.1434+25_1434+27delinsTAG
XM_011523829.1:c.1434+25_1434+27delinsTAG	XP_011522131.1:n.1434+25_1434+27delinsTAG
XM_011523830.1:c.1434+25_1434+27delinsTAG	XP_011522132.1:n.1434+25_1434+27delinsTAG
XR_934021.1:n.1541+25_1541+27delinsTAG
XR_934022.1:n.1541+25_1541+27delinsTAG
XR_934023.1:n.1541+25_1541+27delinsTAG
XM_006721516.3:c.1434+25_1434+27delinsTAG	XP_006721579.2:n.1434+25_1434+27delinsTAG
XM_011523829.2:c.1434+25_1434+27delinsTAG	XP_011522131.1:n.1434+25_1434+27delinsTAG
XM_011523830.2:c.1434+25_1434+27delinsTAG	XP_011522132.1:n.1434+25_1434+27delinsTAG
XM_024450741.1:c.1434+25_1434+27delinsTAG	XP_024306509.1:n.1434+25_1434+27delinsTAG
XR_934021.2:n.1493+25_1493+27delinsTAG
XR_934022.2:n.1493+25_1493+27delinsTAG
XR_934023.2:n.1493+25_1493+27delinsTAG
NM_000018.4:c.1434+25_1434+27delinsTAG MANE Select	NP_000009.1:n.1434+25_1434+27delinsTAG
NM_001033859.3:c.1368+25_1368+27delinsTAG	NP_001029031.1:n.1368+25_1368+27delinsTAG
NM_001270447.2:c.1503+25_1503+27delinsTAG	NP_001257376.1:n.1503+25_1503+27delinsTAG
NM_001270448.2:c.1206+25_1206+27delinsTAG	NP_001257377.1:n.1206+25_1206+27delinsTAG